학술논문
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly
Document Type
article
Author
Najim Lahrouchi; Aman George; Ilham Ratbi; Ronen Schneider; Siham C. Elalaoui; Shahida Moosa; Sanita Bharti; Ruchi Sharma; Mones Abu-Asab; Felix Onojafe; Najlae Adadi; Elisabeth M. Lodder; Fatima-Zahra Laarabi; Yassine Lamsyah; Hamza Elorch; Imane Chebbar; Alex V. Postma; Vassilios Lougaris; Alessandro Plebani; Janine Altmueller; Henriette Kyrieleis; Vardiella Meiner; Helen McNeill; Kapil Bharti; Stanislas Lyonnet; Bernd Wollnik; Alexandra Henrion-Caude; Amina Berraho; Friedhelm Hildebrandt; Connie R. Bezzina; Brian P. Brooks; Abdelaziz Sefiani
Source
Nature Communications, Vol 10, Iss 1, Pp 1-11 (2019)
Subject
Language
English
ISSN
2041-1723
Abstract
Loss of the cadherin FAT1 has been associated with nephropathy and epithelial cell adhesion defects. Here, the authors report five families with a syndromic form of coloboma associated with homozygous frameshift variants in FAT1 and recapitulate the phenotype in mutant mice and zebrafish.